Have questions? Visit https://www.reddit.com/r/SNPedia

rs387907210

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907210(A;A)
Make rs387907210(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position21844884
GeneABCC9
is asnp
is mentioned by
dbSNPrs387907210
dbSNP (classic)rs387907210
ClinGenrs387907210
ebirs387907210
HLIrs387907210
Exacrs387907210
Gnomadrs387907210
Varsomers387907210
LitVarrs387907210
Maprs387907210
PheGenIrs387907210
Biobankrs387907210
1000 genomesrs387907210
hgdprs387907210
ensemblrs387907210
geneviewrs387907210
scholarrs387907210
googlers387907210
pharmgkbrs387907210
gwascentralrs387907210
openSNPrs387907210
23andMers387907210
SNPshotrs387907210
SNPdbers387907210
MSV3drs387907210
GWAS Ctlgrs387907210
Max Magnitude0
ClinVar
Risk rs387907210(A;A)
Alt rs387907210(A;A)
Reference Rs387907210(G;G)
Significance Pathogenic
Disease Hypertrichotic osteochondrodysplasia
Variation info
Gene ABCC9
CLNDBN Hypertrichotic osteochondrodysplasia
Reversed 1
HGVS NC_000012.11:g.21997818C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000024626.2,